ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.-3G>A

gnomAD frequency: 0.00002  dbSNP: rs876659027
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000576083 SCV000661746 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-14 criteria provided, single submitter clinical testing The c.-3G>A variant is located in the 5' untranslated region (5’ UTR) of the CHEK2 gene. This variant results from a G to A substitution 3 bases upstream from the first translated codon. This nucleotide position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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